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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4575

FusionGeneSummary for BTRC_IKZF3

check button Fusion gene summary
Fusion gene informationFusion gene name: BTRC_IKZF3
Fusion gene ID: 4575
HgeneTgene
Gene symbol

BTRC

IKZF3

Gene ID

8945

22806

Gene namebeta-transducin repeat containing E3 ubiquitin protein ligaseIKAROS family zinc finger 3
SynonymsBETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|bTrCP|bTrCP1|betaTrCPAIO|AIOLOS|ZNFN1A3
Cytomap

10q24.32

17q12-q21.1

Type of geneprotein-codingprotein-coding
DescriptionF-box/WD repeat-containing protein 1AE3RSIkappaBF-box and WD repeats protein beta-TrCPF-box and WD-repeat protein 1Bbeta-TrCP1epididymis tissue protein Li 2apIkappaBalpha-E3 receptor subunitzinc finger protein Aioloszinc finger DNA binding protein Aioloszinc finger protein, subfamily 1A, 3 (Aiolos)
Modification date2018052320180523
UniProtAcc

Q9Y297

Q9UKT9

Ensembl transtripts involved in fusion geneENST00000370187, ENST00000393441, 
ENST00000408038, ENST00000493877, 
ENST00000346872, ENST00000394189, 
ENST00000439167, ENST00000535189, 
ENST00000377944, ENST00000377945, 
ENST00000377952, ENST00000377958, 
ENST00000346243, ENST00000350532, 
ENST00000351680, ENST00000467757, 
ENST00000439016, ENST00000583368, 
Fusion gene scores* DoF score5 X 4 X 5=10027 X 9 X 12=2916
# samples 534
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(34/2916*10)=-3.10038406818924
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTRC [Title/Abstract] AND IKZF3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBTRC

GO:0000209

protein polyubiquitination

12820959

HgeneBTRC

GO:0006511

ubiquitin-dependent protein catabolic process

15448698

HgeneBTRC

GO:0016567

protein ubiquitination

16885022

HgeneBTRC

GO:0042752

regulation of circadian rhythm

15917222

HgeneBTRC

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15917222


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUADTCGA-55-1592-01ABTRCchr10

103221815

+IKZF3chr17

37988404

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000370187ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
5CDS-intronENST00000370187ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-intronENST00000393441ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
5CDS-intronENST00000408038ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-intronENST00000493877ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-

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FusionProtFeatures for BTRC_IKZF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTRC

Q9Y297

IKZF3

Q9UKT9

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediatesthe ubiquitination and subsequent proteasomal degradation oftarget proteins. Recognizes and binds to phosphorylated targetproteins (PubMed:10066435, PubMed:10497169, PubMed:10644755,PubMed:10835356, PubMed:11238952, PubMed:11359933,PubMed:11994270, PubMed:12791267, PubMed:12902344,PubMed:14603323, PubMed:14681206, PubMed:14988407,PubMed:15448698, PubMed:15917222, PubMed:16371461,PubMed:25503564, PubMed:25704143, PubMed:9859996). SCF(BTRC)mediates the ubiquitination of CTNNB1 and participates in Wntsignaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediatesthe ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1,FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2(PubMed:10835356, PubMed:11238952, PubMed:14681206,PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA,NFKBIB and NFKBIE; the degradation frees the associated NFKB1 totranslocate into the nucleus and to activate transcription(PubMed:10066435, PubMed:10497169, PubMed:10644755).Ubiquitination of NFKBIA occurs at 'Lys-21' and 'Lys-22'(PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68;this is required for centriole separation during mitosis(PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates theubiquitination and subsequent degradation of nuclear NFE2L1 (Bysimilarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 andPER2 (PubMed:15917222). May be involved in ubiquitination andsubsequent proteasomal degradation through a DBB1-CUL4 E3ubiquitin-protein ligase. Required for activation of NFKB-mediatedtranscription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Requiredfor proteolytic processing of GLI3 (PubMed:16371461).{ECO:0000250|UniProtKB:Q3ULA2, ECO:0000269|PubMed:10066435,ECO:0000269|PubMed:10497169, ECO:0000269|PubMed:10644755,ECO:0000269|PubMed:10835356, ECO:0000269|PubMed:11238952,ECO:0000269|PubMed:11359933, ECO:0000269|PubMed:11994270,ECO:0000269|PubMed:12077367, ECO:0000269|PubMed:12791267,ECO:0000269|PubMed:12820959, ECO:0000269|PubMed:12902344,ECO:0000269|PubMed:14603323, ECO:0000269|PubMed:14681206,ECO:0000269|PubMed:14988407, ECO:0000269|PubMed:15448698,ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:16371461,ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143,ECO:0000269|PubMed:9859996}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BTRC_IKZF3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BTRC_IKZF3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BTRCTRIM9, TBK1, SMAD4, SMAD3, DLG1, CUL1, SKP1, IKBKB, NFKB1, NFKBIB, BTRC, FBXW11, NFKBIA, UBE2R2, CDC34, RELA, JUP, NFKB2, UBE2D2, HIPK2, PTTG1, BORA, PDCD4, TP63, EPOR, PHLPP1, AMER1, GHR, APC, CDC25A, HIVEP1, HIVEP2, IGHM, NRD1, PRKACA, SERPINB4, OGT, KEAP1, TUBGCP3, NUDC, TUBGCP2, CLPX, SUN2, COPS4, USP47, GPRASP2, KRT79, CLSPN, CTNNB1, EP300, ATF4, PER1, SNAI1, FBXO5, GLI3, WEE1, TNF, SNRNP70, AXIN1, GSK3B, HEY2, CASP3, MYC, RASA1, CDC25B, CLU, UBC, YAP1, TP53, IKBKG, IFNAR1, BST2, DEPTOR, SP1, PSMD4, UBE2D1, BMI1, MDM2, FBXW8, HNRNPU, MAPK14, CSNK2B, DBN1, RASSF1, ZC3H12A, ICE1, PCDH8, KDR, NEDD8, HRAS, CTTN, FAF1, IL10RA, TAZ, PRLR, EEF2K, RNF7, RBX1, BCL2L11, FGD1, AGO2, DDB1, CUL4A, IGF2BP1, FOXO3, WWTR1, ELF3, REST, CDC20, HSF1, CCNE1, BCL10, RCAN1, CCND1, IRAK1, MCL1, PLK4, CHUK, USP37, BTG1, BTG2, FGD3, SKP2, ELAVL1, UHRF1, DDIT4, HSP90AA1, SMURF1, AURKA, CCDC22, TERF1, CRY1, CRY2, PER2, TRIB2, NCOR2, CHPF, HNRNPK, CP, HNRNPC, PRDX1, PSMA3, FZR1, VCP, MAP2K1, MTSS1, UFD1L, NPLOC4, EZH2, SUZ12, OIP5, TFAP4, NEDD4, KRAS, SMURF2, NUAK1, NUAK2, ASF1A, UBE2D3, TIAM1, CDK1, CCNB1, RASSF5, BHLHE40, RAP1GAP, RAPGEF2, TBC1D4, SKP1P2, NFE2, TACC1, ENO1, MOV10, NXF1, E2F1, NFKBIE, AATF, ARIH1, CAND1, CPVL, DAP3, DOCK1, EGFLAM, ELMO2, GPATCH8, HNRNPA3, HNRNPAB, HNRNPD, HNRNPUL2, MRPL12, MRPL15, MRPL21, MRPL24, MRPL37, MRPL38, MRPL4, MRPL40, MRPL41, MRPL44, MRPL47, MRPL48, MRPL49, MRPS18A, MRPS22, MRPS27, MRPS31, MRPS34, MRPS35, YWHAB, YWHAE, YWHAG, YWHAZ, CSNK1A1, CTNNA1, GBF1, HCFC1, HSPB1, NFE2L1, PPP1R15B, PRKAR1A, RBMXL2, REL, STK3, STK4, DLD, TSC22D4, WBP1, SPANXN3, FAM219A, ZBTB46, NFE2L2, UBE4B, ZNF395, ZNF704, PRRC2A, AEBP2, GGNBP2, ALDH2, CEP44, DACT1, FNIP1, RIPK4, RASSF3, CEP68, WWC1, GLI1, SOX9, ALDH1A2, C11orf49, C1orf226, CCDC138, CEP55, DCP1A, DCP1B, DPCD, DVL1, EMG1, LRRC49, NEDD1, NOL10, NOS1AP, NSFL1C, OFD1, PCM1, PDLIM5, PFDN1, PFDN4, PFDN5, PFDN6, PPM1G, RAB5A, RPS10, RPS18, SMG5, SSX2IP, TCP11L2, TJP1, TPGS1, TXNL1, WWOX, ABCD3, ACBD5, BOP1, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, COL10A1, KANK2, LRRC47, MDN1, PFDN2, SIRT2, SMG7, TNRC6A, TWISTNB, USMG5, VBP1, VCPIP1, WDR12, AFG3L2, AKAP2, ALDH3A2, ALMS1, BAG2, BUB1B, CNOT11, CCDC50, CKAP5, CLTCL1, CNOT1, CNOT10, CREBRF, DLG5, ERBB2IP, FAM21A, FLCN, GOPC, MAGED1, MAP1S, MAST2, MAST3, MTR, NME7, RGAG1, RQCD1, SPATA5, TCHP, TNRC6B, USP54, YTHDF3, STIL, COPS6, HINT1, CREB3L3, FOXN2, GADD45A, TWIST1, PAQR3, FANCM, LPCAT1, MAP3K2, USP15, FBXW2, LPIN1, ALPP, MTDH, PRKRA, CTNND1, DYRK1A, COPS7A, COPS7B, CHD1, MLPH, KHDRBS2, MYO10, MPRIP, DHX38, EML5, LSP1, PLEKHG5, SH3BP5L, ACOT7, GPR161, IL17RD, BTG3, TUBGCP5, SPATA20, KIF20A, EED, PRICKLE3, FOXN3, RAI14, APBA2, TUBGCP6, RALGAPB, TUBGCP4, CACHD1, MXI1, TNKS1BP1, CNOT2, INTU, CUL5, TRIM25, CENPWIKZF3UBE2I, SIN3A, SIN3B, HDAC2, HDAC4, HDAC5, HDAC7, CHD4, IKZF4, IKZF5, IKZF2, HRAS, BCL2L1, IKZF1, NOTCH1, FOXP3, CRBN, UBC, ARNT2, DGCR6, PRKAB2, AES, AQP1, RHOA, CDKN1A, CDKN2D, GEM, GRB2, HNRNPF, KRT19, LMO1, LMO2, PFDN5, PIK3R2, PIN1, PRKAA1, PSMA1, RAD51D, STK16, STX11, POLR1C, EMC2, FAM115A, AKAP9, BCAS2, KAT5, MRPL28, FARS2, NEK6, IKZF3, ABLIM3, PPP1R16B, POLM, OSGIN1, CHCHD2, SPG21, OAZ3, C1orf109, MAGOHB, FANCL, TBC1D22B, RCOR3, PCID2, CABP5, LGALS14, EXOSC5, STAMBPL1, TRAPPC6A, ARMC7, TSSK3, ING5, ZGPAT, FBF1, ATPAF2, EFHC1, MRPL53, EXOC8, TEKT4, TSTD2, NATD1, MORN3, TRIM42, ARMC8, SETMAR, DGCR14, GID4, MAD1L1, LDOC1, STK26, SUMO1, PRDM1, CUL4A, GATAD2B, TRIM25, SMARCB1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BTRC_IKZF3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BTRC_IKZF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIKZF3C0003873Rheumatoid Arthritis1CTD_human
TgeneIKZF3C0004096Asthma1CTD_human
TgeneIKZF3C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human